Collaborate
We are looking for a laboratory. This page is the request, not an announcement.
What we are looking for
A collaboration with a university or qualified research laboratory to investigate the EEF1A2 D91N variant experimentally. We do not have one. This page is the request, not an announcement.
We have no formal university partnership, no institutional affiliation, and no funded collaboration. The molecular dynamics work is being done with an independent collaborator. Any future partnership will be named on this site only with the explicit permission of the people and institutions involved, and unpublished results will not appear here without the consent of whoever produced them.
Groups whose work seems closest
We are looking, in rough order of fit, for groups working on: translational GTPase structural biology and the eEF1A family; translation elongation and ribosome quality control; developmental and epileptic encephalopathies with a functional-genomics arm; and neuronal and muscle differentiation models suitable for a gene with a developmental isoform switch.
The specific first question
Whether Stage 2 is tractable: purified wild-type and D91N protein, measured for stability, GTP binding, GTPase activity and aminoacyl-tRNA delivery. Roughly what would it cost, does it need reagents that do not exist, and is the question interesting enough to be worth a side project?
A short answer that the premise is wrong is genuinely useful to us, and we would rather have it than a polite silence.
What we can offer
- A narrow, documented single-variant question, with the surrounding literature read and annotated by how far each source was actually read.
- A pre-registered analysis plan for the computational arm, and the trajectory data when it is complete.
- A family willing to do unglamorous work — literature curation, administrative legwork, coordinating with clinical genetics.
- Realistic expectations. We know a laboratory cannot promise an outcome, and we are not asking for one.
Other reasons to write
- A correction. If we have mischaracterised your work, please say so. We will fix it and log the correction publicly.
- Another affected family — particularly anyone with the D91N variant specifically.
- Clinicians managing someone with an EEF1A2 variant, if anything on this site would be more useful to you in a different form.
How to reach us
Please write to contact@eef1a2-initiative.com. This website has no contact form and does not store messages. How we handle email is explained on the disclaimer and privacy page.
Please do not send medical records, genetic reports or identifiable patient information by email. If clinical detail is relevant to a collaboration, we will arrange an appropriate route for it.